Variant report

Variant	rs11211343
Chromosome Location	chr1:47172009-47172010
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47166087..47167615-chr1:47169946..47172468,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10890410	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10890414	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11801744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12059860	1.00[CEU][hapmap]
rs12060032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12562113	0.87[ASN][1000 genomes]
rs12566278	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12568734	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1258055	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1258058	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1258063	0.84[ASN][1000 genomes]
rs1258064	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1258065	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1258066	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1258068	0.85[ASN][1000 genomes]
rs1258072	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1268714	0.85[ASN][1000 genomes]
rs1273237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13374909	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1745376	0.85[ASN][1000 genomes]
rs1933932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2146560	0.85[ASN][1000 genomes]
rs2181412	0.85[ASN][1000 genomes]
rs2241863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2241864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2439442	0.93[ASN][1000 genomes]
rs2476153	0.87[ASN][1000 genomes]
rs2476155	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2476156	0.87[ASN][1000 genomes]
rs2476157	0.92[ASN][1000 genomes]
rs2476159	0.91[ASN][1000 genomes]
rs2486160	0.92[ASN][1000 genomes]
rs2486162	0.87[ASN][1000 genomes]
rs3011290	0.86[ASN][1000 genomes]
rs3766218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3766220	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3766221	0.96[ASN][1000 genomes]
rs3766222	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3766223	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs56771521	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57495753	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs582269	0.93[ASN][1000 genomes]
rs582323	0.92[ASN][1000 genomes]
rs582760	0.93[ASN][1000 genomes]
rs583649	0.92[ASN][1000 genomes]
rs58678760	0.97[ASN][1000 genomes]
rs58920789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59479990	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs596794	0.93[ASN][1000 genomes]
rs597221	0.93[ASN][1000 genomes]
rs60239027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs604233	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs604264	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs611919	0.93[ASN][1000 genomes]
rs629412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs631368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs631840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs636082	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs636122	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs636424	0.93[ASN][1000 genomes]
rs648822	0.86[ASN][1000 genomes]
rs654544	0.93[ASN][1000 genomes]
rs655369	0.93[ASN][1000 genomes]
rs657166	0.93[ASN][1000 genomes]
rs6677350	1.00[CEU][hapmap]
rs669647	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs673134	0.93[ASN][1000 genomes]
rs675731	0.87[ASN][1000 genomes]
rs678466	0.82[ASN][1000 genomes]
rs683585	0.86[ASN][1000 genomes]
rs685862	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs689300	0.93[ASN][1000 genomes]
rs723333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs724309	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap]
rs72896683	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs72900715	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47141400-47183400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:47154600-47183400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:47157600-47172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:47159200-47182800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:47159400-47172200	Weak transcription	Psoas Muscle	Psoas
6	chr1:47160600-47173600	Strong transcription	Primary T cells from cord blood	blood
7	chr1:47160600-47174000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:47160600-47181200	Strong transcription	Dnd41	blood
9	chr1:47160800-47174000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:47160800-47175400	Strong transcription	Liver	Liver
11	chr1:47160800-47181800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:47160800-47182200	Strong transcription	Primary B cells from cord blood	blood
13	chr1:47160800-47182200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:47160800-47182400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:47160800-47182600	Strong transcription	Placenta	Placenta
16	chr1:47161000-47173400	Strong transcription	Primary hematopoietic stem cells	blood
17	chr1:47161000-47173800	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:47161200-47182200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr1:47161400-47182200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:47161400-47182800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:47164200-47173600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:47164200-47177400	Strong transcription	GM12878-XiMat	blood
23	chr1:47164400-47182200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:47164400-47182800	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:47164600-47173400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:47164600-47181600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:47165600-47182200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:47166200-47182400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr1:47166400-47173800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr1:47166600-47173400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:47166600-47177200	Strong transcription	Fetal Brain Female	brain
32	chr1:47166600-47182400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:47166600-47182400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:47166600-47182800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr1:47166600-47182800	Strong transcription	Fetal Thymus	thymus
36	chr1:47166800-47172800	Strong transcription	Ovary	ovary
37	chr1:47166800-47173200	Strong transcription	Thymus	Thymus
38	chr1:47166800-47173400	Strong transcription	Brain Germinal Matrix	brain
39	chr1:47166800-47181800	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:47166800-47182200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr1:47166800-47182400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:47166800-47182600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:47166800-47182800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:47167000-47173200	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr1:47167000-47173200	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr1:47167000-47174000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:47167000-47174400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:47167000-47175400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr1:47167000-47182400	Strong transcription	Fetal Muscle Leg	muscle
50	chr1:47167000-47182800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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